Incidental Mutation 'R5808:Slc41a2'
ID 448848
Institutional Source Beutler Lab
Gene Symbol Slc41a2
Ensembl Gene ENSMUSG00000034591
Gene Name solute carrier family 41, member 2
Synonyms A230035L05Rik
Accession Numbers
Essential gene? Probably non essential (E-score: 0.143) question?
Stock # R5808 (G1)
Quality Score 225
Status Not validated
Chromosome 10
Chromosomal Location 83066712-83173746 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 83149362 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 194 (T194A)
Ref Sequence ENSEMBL: ENSMUSP00000036690 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000039956] [ENSMUST00000126617] [ENSMUST00000154730] [ENSMUST00000154926]
AlphaFold Q8BYR8
Predicted Effect probably benign
Transcript: ENSMUST00000039956
AA Change: T194A

PolyPhen 2 Score 0.286 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000036690
Gene: ENSMUSG00000034591
AA Change: T194A

DomainStartEndE-ValueType
transmembrane domain 159 181 N/A INTRINSIC
Pfam:MgtE 200 334 8.7e-24 PFAM
transmembrane domain 346 368 N/A INTRINSIC
transmembrane domain 375 397 N/A INTRINSIC
Pfam:MgtE 414 557 2.9e-32 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000126617
Predicted Effect probably benign
Transcript: ENSMUST00000154730
Predicted Effect probably benign
Transcript: ENSMUST00000154926
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 95.1%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 58 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2610028H24Rik C T 10: 76,286,482 (GRCm39) R6W probably damaging Het
Ahnak T A 19: 8,987,599 (GRCm39) V2961E possibly damaging Het
Aldh1a7 A T 19: 20,685,561 (GRCm39) Y330N possibly damaging Het
Bag6 A G 17: 35,365,298 (GRCm39) Y1041C probably damaging Het
Baz1b T A 5: 135,250,812 (GRCm39) V866E probably benign Het
Bmpr2 A T 1: 59,906,560 (GRCm39) Y551F probably benign Het
Cage1 A G 13: 38,206,301 (GRCm39) probably benign Het
Caskin2 G T 11: 115,692,589 (GRCm39) P732Q probably damaging Het
Cbfa2t2 T C 2: 154,359,746 (GRCm39) probably null Het
Ccdc162 A T 10: 41,531,500 (GRCm39) M502K possibly damaging Het
Cfap157 T C 2: 32,670,657 (GRCm39) D197G probably damaging Het
CN725425 T A 15: 91,129,847 (GRCm39) S237T probably benign Het
Defb40 T C 8: 19,025,095 (GRCm39) H37R probably benign Het
Dis3l2 A C 1: 86,977,360 (GRCm39) S836R possibly damaging Het
Dnah14 T C 1: 181,568,724 (GRCm39) I2818T possibly damaging Het
Dpysl2 T A 14: 67,102,621 (GRCm39) probably null Het
Dsc1 A T 18: 20,219,886 (GRCm39) C761* probably null Het
Dsg1b A T 18: 20,541,782 (GRCm39) D763V probably damaging Het
Eif2ak1 C T 5: 143,820,812 (GRCm39) P251L probably benign Het
Epha6 A T 16: 59,503,105 (GRCm39) I934K probably damaging Het
Fbxo40 T C 16: 36,790,744 (GRCm39) E122G probably damaging Het
Filip1 C T 9: 79,725,983 (GRCm39) G879R possibly damaging Het
Frem2 A T 3: 53,559,984 (GRCm39) F1508I probably damaging Het
Gja1 A G 10: 56,264,594 (GRCm39) N318D probably benign Het
Gm11564 T C 11: 99,705,867 (GRCm39) S188G unknown Het
Hlcs A G 16: 94,063,491 (GRCm39) V523A probably benign Het
Kif1a C A 1: 92,970,420 (GRCm39) E1041D probably damaging Het
Lamtor1 A G 7: 101,559,289 (GRCm39) Y81C possibly damaging Het
Loxl1 A G 9: 58,201,732 (GRCm39) L453S probably damaging Het
Mcf2l A G 8: 13,043,937 (GRCm39) M1V probably null Het
Megf6 A G 4: 154,352,119 (GRCm39) Q1208R probably benign Het
Morc2a T A 11: 3,633,781 (GRCm39) I631N probably benign Het
Muc6 T C 7: 141,226,360 (GRCm39) probably benign Het
Mybpc1 T C 10: 88,406,428 (GRCm39) S139G possibly damaging Het
Myo18a T C 11: 77,720,127 (GRCm39) F1017L probably benign Het
Nup62 A C 7: 44,479,416 (GRCm39) Q477P possibly damaging Het
P2ry13 T A 3: 59,117,653 (GRCm39) I42F probably benign Het
Ptprb G A 10: 116,175,392 (GRCm39) R1129K probably benign Het
Rexo4 T A 2: 26,854,197 (GRCm39) K45I probably damaging Het
Rnf213 G A 11: 119,327,121 (GRCm39) V1703I probably benign Het
Sec23ip C A 7: 128,373,908 (GRCm39) A710E probably benign Het
Sfi1 A ATCTTCCCAAAGCCAGTGC 11: 3,103,384 (GRCm39) probably benign Het
Slc4a10 G A 2: 62,080,816 (GRCm39) A348T probably damaging Het
Soat2 G A 15: 102,062,460 (GRCm39) probably null Het
Srms T C 2: 180,850,548 (GRCm39) S204G probably benign Het
Szt2 G A 4: 118,229,810 (GRCm39) R2774C unknown Het
Tcf7l2 T C 19: 55,896,973 (GRCm39) V182A probably damaging Het
Tmem167b C T 3: 108,467,559 (GRCm39) R29H probably benign Het
Trappc12 T A 12: 28,796,863 (GRCm39) D223V probably damaging Het
Ttc6 T A 12: 57,664,397 (GRCm39) S383R possibly damaging Het
Ubr1 C T 2: 120,791,573 (GRCm39) R137H possibly damaging Het
Vmn2r24 T A 6: 123,792,597 (GRCm39) C641* probably null Het
Vrk3 A G 7: 44,409,298 (GRCm39) D155G probably damaging Het
Xxylt1 T C 16: 30,869,503 (GRCm39) Y199C probably damaging Het
Zbtb46 A T 2: 181,065,363 (GRCm39) D262E probably benign Het
Zcchc9 A T 13: 91,948,766 (GRCm39) S58T probably benign Het
Zfp747l1 A T 7: 126,984,085 (GRCm39) probably benign Het
Zfyve16 A T 13: 92,631,563 (GRCm39) L1344* probably null Het
Other mutations in Slc41a2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00821:Slc41a2 APN 10 83,149,394 (GRCm39) unclassified probably benign
IGL02263:Slc41a2 APN 10 83,149,364 (GRCm39) missense possibly damaging 0.82
IGL02338:Slc41a2 APN 10 83,152,455 (GRCm39) missense possibly damaging 0.68
IGL02680:Slc41a2 APN 10 83,119,728 (GRCm39) missense probably benign 0.20
IGL02703:Slc41a2 APN 10 83,090,711 (GRCm39) missense probably damaging 1.00
IGL03039:Slc41a2 APN 10 83,119,722 (GRCm39) missense probably benign 0.37
PIT4508001:Slc41a2 UTSW 10 83,090,744 (GRCm39) missense probably damaging 0.99
R0326:Slc41a2 UTSW 10 83,119,610 (GRCm39) missense probably damaging 1.00
R0470:Slc41a2 UTSW 10 83,152,086 (GRCm39) missense possibly damaging 0.94
R0610:Slc41a2 UTSW 10 83,119,592 (GRCm39) missense possibly damaging 0.75
R1708:Slc41a2 UTSW 10 83,069,596 (GRCm39) missense probably damaging 1.00
R1765:Slc41a2 UTSW 10 83,137,130 (GRCm39) missense probably damaging 1.00
R1870:Slc41a2 UTSW 10 83,137,029 (GRCm39) nonsense probably null
R1875:Slc41a2 UTSW 10 83,091,949 (GRCm39) missense probably damaging 1.00
R2008:Slc41a2 UTSW 10 83,140,167 (GRCm39) critical splice donor site probably null
R2172:Slc41a2 UTSW 10 83,119,638 (GRCm39) missense probably benign 0.00
R4193:Slc41a2 UTSW 10 83,137,085 (GRCm39) missense probably damaging 0.97
R4789:Slc41a2 UTSW 10 83,152,320 (GRCm39) missense probably damaging 1.00
R4861:Slc41a2 UTSW 10 83,152,322 (GRCm39) missense probably damaging 0.99
R4861:Slc41a2 UTSW 10 83,152,322 (GRCm39) missense probably damaging 0.99
R4913:Slc41a2 UTSW 10 83,149,284 (GRCm39) missense probably damaging 1.00
R5012:Slc41a2 UTSW 10 83,137,127 (GRCm39) missense probably benign 0.02
R5140:Slc41a2 UTSW 10 83,133,155 (GRCm39) missense probably damaging 0.98
R5189:Slc41a2 UTSW 10 83,149,275 (GRCm39) splice site probably null
R5410:Slc41a2 UTSW 10 83,117,232 (GRCm39) critical splice donor site probably null
R5748:Slc41a2 UTSW 10 83,133,023 (GRCm39) missense probably benign 0.00
R6124:Slc41a2 UTSW 10 83,133,116 (GRCm39) missense probably damaging 1.00
R6292:Slc41a2 UTSW 10 83,090,790 (GRCm39) missense probably damaging 0.99
R6511:Slc41a2 UTSW 10 83,119,652 (GRCm39) missense probably damaging 0.99
R6793:Slc41a2 UTSW 10 83,137,022 (GRCm39) splice site probably null
R6970:Slc41a2 UTSW 10 83,151,960 (GRCm39) missense possibly damaging 0.53
R7584:Slc41a2 UTSW 10 83,152,653 (GRCm39) splice site probably benign
R7752:Slc41a2 UTSW 10 83,091,905 (GRCm39) missense possibly damaging 0.73
R8289:Slc41a2 UTSW 10 83,137,044 (GRCm39) missense probably benign 0.06
R8700:Slc41a2 UTSW 10 83,152,097 (GRCm39) missense probably damaging 1.00
R9607:Slc41a2 UTSW 10 83,119,631 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- AGGAAACCAACCTTCTTGTCAC -3'
(R):5'- GCTGTGCTTTAAAACCGGGAAG -3'

Sequencing Primer
(F):5'- GTCACACAAACTCTTCTATGTGGAG -3'
(R):5'- GGTCTACACAGTGACTTTCAGGC -3'
Posted On 2016-12-15